rs373835270
- Uncertain significance
- Uncertain significance
Your Genotype
Sign InDescription
The c.2905+4T>A intronic variant results from a T to A substitution 4 nucleotides after coding exon 18 in the BRIP1 gene. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6502 samples (13004 alleles) with coverage at this position. To date, this alteration has been detected with an allele frequency of approximately 0.001% (greater than 120000alleles tested) in our clinical cohort.This nucleotide position is well conserved in available vertebrate species.Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Reference Allele
A
Alternative Allele
G
T
Chromosome
17
Location
61685832
Variant Type
SNP
Genes
ClinVar
Name
NM_032043.3(BRIP1):c.2905+4T>A
Allele
T
Clinical Significance
Uncertain significance
Name
NM_032043.3(BRIP1):c.2905+4T>C
Allele
G
Clinical Significance
Uncertain significance